Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704725 | SCV000833685 | benign | Epilepsy, familial adult myoclonic, 5 | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003420259 | SCV004124365 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | CNTN2: BP4, BS1 |
Prevention |
RCV003953246 | SCV004772450 | benign | CNTN2-related condition | 2019-07-10 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |